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胸主动脉瘤和腹主动脉瘤之间存在免疫基因组差异吗?

Is there an immunogenomic difference between thoracic and abdominal aortic aneurysms?

作者信息

Yap Zhi Jiun, Sharif Monira, Bashir Mohamad

机构信息

Department of Anaesthetic, Dorset County Hospital, Dorset, England.

Department of Molecular & Clinical Medicine, Ninewells Hospital and Medical School, Dundee, Scotland.

出版信息

J Card Surg. 2021 Apr;36(4):1520-1530. doi: 10.1111/jocs.15440. Epub 2021 Feb 18.

DOI:10.1111/jocs.15440
PMID:33604952
Abstract

BACKGROUND AND AIM

Aortic aneurysms most commonly occur in the infra-renal and proximal thoracic regions. While generally asymptomatic, progressive aneurysmal dilation can become rapidly lethal when dissection or ruptures occurs, highlighting the need for more robust screening. Abdominal aortic aneurysm (AAA) is more prevalent compared to thoracic aortic aneurysm (TAA). The true incidence of TAA is underreported due to the absence of population screening and the silent nature of TAA. To achieve the optimum survival rate in aortic aneurysms, knowledge of natural course, genetic association, and surgical results are needed to be applied with adequate medical treatment and careful selection of patients for operation. The purpose of this paper is to provide a comprehensive review of the literature on natural history, immunology, and genetic differences between thoracic and AAAs.

METHOD

The literature was collected from OVID, SCOPUS, and PubMed.

RESULTS

(1) AAA expands faster than TAA. AAA expands at approximately 0.3-0.45 cm annually, depending on various factors (advancing age, diameter of aorta, smoking etc.). TAA expands up to 0.3 cm annually in a non-bicuspid aortic valve patient. (2) An increase in Matrix metallopeptidase 1, 2, 9, 12, 14 led to degrading extracellular matrix of the aortic vessel wall. This significantly contributed to the pathogenesis in AAA, whereas overactive Transforming growth factor-beta played a major role in the pathogenesis of TAA.

CONCLUSION

In the future, genetic testing may be the gold standard for tackling the geneticheterogeneity of aneurysms, therefore, identifying at-risk individuals developing TAA andAAA earlier.

摘要

背景与目的

主动脉瘤最常发生于肾下和胸段近端区域。虽然通常无症状,但当发生夹层或破裂时,动脉瘤的进行性扩张可迅速致命,这凸显了更有力筛查的必要性。与胸主动脉瘤(TAA)相比,腹主动脉瘤(AAA)更为常见。由于缺乏人群筛查以及TAA的隐匿性,TAA的真实发病率被低估。为了在主动脉瘤患者中实现最佳生存率,需要了解其自然病程、遗传关联和手术结果,并将其应用于适当的药物治疗和仔细的手术患者选择。本文旨在全面综述关于胸主动脉瘤和腹主动脉瘤自然病史、免疫学及遗传差异的文献。

方法

从OVID、SCOPUS和PubMed收集文献。

结果

(1)AAA比TAA扩张得更快。AAA每年扩张约0.3 - 0.45厘米,具体取决于多种因素(年龄增长、主动脉直径、吸烟等)。在非二叶式主动脉瓣患者中,TAA每年扩张可达0.3厘米。(2)基质金属蛋白酶1、2、9、12、14的增加导致主动脉血管壁细胞外基质降解。这在AAA发病机制中起了重要作用,而转化生长因子-β过度激活在TAA发病机制中起主要作用。

结论

未来,基因检测可能是解决动脉瘤基因异质性的金标准,从而更早地识别有患TAA和AAA风险的个体。

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Is there an immunogenomic difference between thoracic and abdominal aortic aneurysms?胸主动脉瘤和腹主动脉瘤之间存在免疫基因组差异吗?
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Response to "Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing".对《家族性颅内动脉瘤不仅需要全外显子组测序,还需要线粒体DNA测序》的回应
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